Incidental Mutation 'IGL01077:Serpinb6b'
ID |
52537 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb6b
|
Ensembl Gene |
ENSMUSG00000042842 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6b |
Synonyms |
NK13, ovalbumin, Spi12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL01077
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33149192-33163050 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33162049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 283
(D283N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105922
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017184]
[ENSMUST00000110293]
[ENSMUST00000164541]
|
AlphaFold |
O08804 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017184
|
SMART Domains |
Protein: ENSMUSP00000017184 Gene: ENSMUSG00000042842
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
208 |
1.22e-10 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110293
AA Change: D283N
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105922 Gene: ENSMUSG00000042842 AA Change: D283N
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.99e-174 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164541
AA Change: D164N
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
Other mutations in Serpinb6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Serpinb6b
|
APN |
13 |
33,155,529 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01553:Serpinb6b
|
APN |
13 |
33,158,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02981:Serpinb6b
|
APN |
13 |
33,155,589 (GRCm39) |
missense |
probably benign |
0.34 |
R0308:Serpinb6b
|
UTSW |
13 |
33,162,220 (GRCm39) |
missense |
probably benign |
0.09 |
R1568:Serpinb6b
|
UTSW |
13 |
33,158,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Serpinb6b
|
UTSW |
13 |
33,158,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Serpinb6b
|
UTSW |
13 |
33,162,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1918:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1919:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1920:Serpinb6b
|
UTSW |
13 |
33,158,991 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3032:Serpinb6b
|
UTSW |
13 |
33,152,551 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4239:Serpinb6b
|
UTSW |
13 |
33,156,246 (GRCm39) |
missense |
probably damaging |
0.96 |
R5089:Serpinb6b
|
UTSW |
13 |
33,162,133 (GRCm39) |
missense |
probably benign |
|
R5503:Serpinb6b
|
UTSW |
13 |
33,161,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5540:Serpinb6b
|
UTSW |
13 |
33,161,541 (GRCm39) |
nonsense |
probably null |
|
R6061:Serpinb6b
|
UTSW |
13 |
33,161,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R6253:Serpinb6b
|
UTSW |
13 |
33,156,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Serpinb6b
|
UTSW |
13 |
33,155,598 (GRCm39) |
missense |
probably benign |
0.09 |
R7248:Serpinb6b
|
UTSW |
13 |
33,161,559 (GRCm39) |
missense |
probably benign |
0.23 |
R7315:Serpinb6b
|
UTSW |
13 |
33,156,240 (GRCm39) |
missense |
probably benign |
0.41 |
R7424:Serpinb6b
|
UTSW |
13 |
33,152,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R7547:Serpinb6b
|
UTSW |
13 |
33,158,907 (GRCm39) |
missense |
probably benign |
0.05 |
R7732:Serpinb6b
|
UTSW |
13 |
33,152,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:Serpinb6b
|
UTSW |
13 |
33,161,512 (GRCm39) |
missense |
probably benign |
0.05 |
R7802:Serpinb6b
|
UTSW |
13 |
33,155,579 (GRCm39) |
|
|
|
R8814:Serpinb6b
|
UTSW |
13 |
33,162,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8966:Serpinb6b
|
UTSW |
13 |
33,162,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Serpinb6b
|
UTSW |
13 |
33,162,125 (GRCm39) |
missense |
probably benign |
0.45 |
R9037:Serpinb6b
|
UTSW |
13 |
33,161,998 (GRCm39) |
nonsense |
probably null |
|
R9129:Serpinb6b
|
UTSW |
13 |
33,162,139 (GRCm39) |
small deletion |
probably benign |
|
R9377:Serpinb6b
|
UTSW |
13 |
33,152,494 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9415:Serpinb6b
|
UTSW |
13 |
33,159,002 (GRCm39) |
missense |
|
|
R9632:Serpinb6b
|
UTSW |
13 |
33,155,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2013-06-21 |